Variant report

Variant	rs12547608
Chromosome Location	chr8:107716729-107716730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:107716686-107716782	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107669671..107671517-chr8:107714506..107717321,2	MCF-7	breast:
2	chr8:107716434..107716966-chr8:107858248..107858913,2	MCF-7	breast:

Variant related genes	Relation type
OXR1	TF binding region
ENSG00000164830	Chromatin interaction
ENSG00000253582	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10087077	0.87[EUR][1000 genomes]
rs10088694	0.82[EUR][1000 genomes]
rs10089357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10089618	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10089890	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10090534	0.89[EUR][1000 genomes]
rs10091390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10091611	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10092665	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10099361	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10100839	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10101102	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10102112	0.85[EUR][1000 genomes]
rs10104941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10106834	0.89[EUR][1000 genomes]
rs10108240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10110610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10283128	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10283130	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12543558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12544138	0.87[EUR][1000 genomes]
rs12547372	0.85[EUR][1000 genomes]
rs12548149	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13254031	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13255878	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13259080	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13268490	0.82[EUR][1000 genomes]
rs16875002	0.87[EUR][1000 genomes]
rs16875065	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16875066	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1872282	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2035515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2126580	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28422868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28808577	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28921395	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35108468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35499727	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35919651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36011510	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3736179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3779996	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59316573	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7461484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9297385	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107672200-107718800	Weak transcription	Psoas Muscle	Psoas
2	chr8:107672400-107718600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:107677600-107718800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:107679200-107738200	Weak transcription	Right Ventricle	heart
5	chr8:107681200-107730200	Weak transcription	Small Intestine	intestine
6	chr8:107683800-107718800	Weak transcription	Hela-S3	cervix
7	chr8:107688600-107718600	Weak transcription	Stomach Mucosa	stomach
8	chr8:107690200-107730600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:107691600-107718600	Weak transcription	K562	blood
10	chr8:107692000-107738400	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:107692800-107725800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:107694600-107719000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:107694600-107738000	Weak transcription	Fetal Heart	heart
14	chr8:107695000-107725800	Weak transcription	NHLF	lung
15	chr8:107695800-107718600	Weak transcription	NHEK	skin
16	chr8:107696000-107718800	Weak transcription	A549	lung
17	chr8:107696000-107737200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:107696200-107718800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:107697800-107718400	Weak transcription	HUVEC	blood vessel
20	chr8:107697800-107718800	Weak transcription	Osteobl	bone
21	chr8:107697800-107719000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:107697800-107723800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:107698000-107718600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:107698000-107718600	Weak transcription	NH-A	brain
25	chr8:107698000-107719000	Weak transcription	Fetal Kidney	kidney
26	chr8:107698000-107723000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:107698200-107718600	Weak transcription	HepG2	liver
28	chr8:107698200-107718800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:107698200-107718800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:107698200-107718800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:107698200-107731000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:107698400-107718600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:107698400-107718600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:107698400-107718800	Weak transcription	HSMM	muscle
35	chr8:107699400-107718800	Weak transcription	NHDF-Ad	bronchial
36	chr8:107701400-107717400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr8:107705400-107718600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:107705400-107718600	Weak transcription	HMEC	breast
39	chr8:107705400-107718800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:107706000-107718600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:107706000-107723600	Weak transcription	Brain Anterior Caudate	brain
42	chr8:107706600-107718600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:107707800-107723600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr8:107707800-107737800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:107708800-107725600	Weak transcription	Fetal Brain Male	brain
46	chr8:107709000-107718600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:107710000-107718200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr8:107710000-107718800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:107710000-107723800	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:107710200-107718600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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